LOCUS       NM_003227               2886 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1,
            mRNA.
ACCESSION   NM_003227
VERSION     NM_003227.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2886)
  AUTHORS   Xiong,L., Li,X., Hua,X. and Qian,Z.
  TITLE     Circ-STC2 promotes the ferroptosis of nucleus pulposus cells via
            targeting miR-486-3p/TFR2 axis
  JOURNAL   J Orthop Surg Res 18 (1), 518 (2023)
   PUBMED   37480032
  REMARK    GeneRIF: Circ-STC2 promotes the ferroptosis of nucleus pulposus
            cells via targeting miR-486-3p/TFR2 axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2886)
  AUTHORS   Tong,S., Hong,Y., Xu,Y., Sun,Q., Ye,L., Cai,J., Ye,Z., Chen,Q. and
            Tian,D.
  TITLE     TFR2 regulates ferroptosis and enhances temozolomide
            chemo-sensitization in gliomas
  JOURNAL   Exp Cell Res 424 (1), 113474 (2023)
   PUBMED   36702193
  REMARK    GeneRIF: TFR2 regulates ferroptosis and enhances temozolomide
            chemo-sensitization in gliomas.
            Review article
REFERENCE   3  (bases 1 to 2886)
  AUTHORS   Dissanayake,R., Samarasinghe,N., Waidyanatha,S., Pathirana,S.,
            Neththikumara,N., Dissanayake,V.H.W., Wetthasinghe,K.,
            Gooneratne,L. and Wickramasinghe,P.
  TITLE     Assessment of iron overload in a cohort of Sri Lankan patients with
            transfusion dependent beta thalassaemia and its correlation with
            pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes
  JOURNAL   BMC Pediatr 22 (1), 344 (2022)
   PUBMED   35705926
  REMARK    GeneRIF: Assessment of iron overload in a cohort of Sri Lankan
            patients with transfusion dependent beta thalassaemia and its
            correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2
            genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2886)
  AUTHORS   Barton,J.C., Wiener,H.W. and Acton,R.T.
  TITLE     Estimates of West African Ancestry in African Americans Using
            Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2
  JOURNAL   Genet Test Mol Biomarkers 26 (2), 96-102 (2022)
   PUBMED   35225679
  REMARK    GeneRIF: Estimates of West African Ancestry in African Americans
            Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
REFERENCE   5  (bases 1 to 2886)
  AUTHORS   Abdulmalek Jaafar,J. and Al-Rashedi,N.A.M.
  TITLE     Evaluation of the Association of Transferrin Receptor Type 2 Gene
            Mutation (Y250X) with Iron Overload in Major beta- Thalassemia
  JOURNAL   Arch Razi Inst 76 (5), 1551-1554 (2021)
   PUBMED   35355750
  REMARK    GeneRIF: Evaluation of the Association of Transferrin Receptor Type
            2 Gene Mutation (Y250X) with Iron Overload in Major beta-
            Thalassemia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2886)
  AUTHORS   Bennett,M.J., Lebron,J.A. and Bjorkman,P.J.
  TITLE     Crystal structure of the hereditary haemochromatosis protein HFE
            complexed with transferrin receptor
  JOURNAL   Nature 403 (6765), 46-53 (2000)
   PUBMED   10638746
REFERENCE   7  (bases 1 to 2886)
  AUTHORS   Kawabata,H., Yang,R., Hirama,T., Vuong,P.T., Kawano,S.,
            Gombart,A.F. and Koeffler,H.P.
  TITLE     Molecular cloning of transferrin receptor 2. A new member of the
            transferrin receptor-like family
  JOURNAL   J Biol Chem 274 (30), 20826-20832 (1999)
   PUBMED   10409623
REFERENCE   8  (bases 1 to 2886)
  AUTHORS   Glockner,G., Scherer,S., Schattevoy,R., Boright,A., Weber,J.,
            Tsui,L.C. and Rosenthal,A.
  TITLE     Large-scale sequencing of two regions in human chromosome 7q22:
            analysis of 650 kb of genomic sequence around the EPO and CUTL1
            loci reveals 17 genes
  JOURNAL   Genome Res 8 (10), 1060-1073 (1998)
   PUBMED   9799793
REFERENCE   9  (bases 1 to 2886)
  AUTHORS   Feder,J.N., Penny,D.M., Irrinki,A., Lee,V.K., Lebron,J.A.,
            Watson,N., Tsuchihashi,Z., Sigal,E., Bjorkman,P.J. and
            Schatzman,R.C.
  TITLE     The hemochromatosis gene product complexes with the transferrin
            receptor and lowers its affinity for ligand binding
  JOURNAL   Proc Natl Acad Sci U S A 95 (4), 1472-1477 (1998)
   PUBMED   9465039
REFERENCE   10 (bases 1 to 2886)
  AUTHORS   De Gobbi,M. and Roetto,A.
  TITLE     TFR2-Related Hemochromatosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301523
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099394.6, DR004213.1,
            AF067864.1 and BI917390.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003227.3.
            
            Summary: This gene encodes a single-pass type II membrane protein,
            which is a member of the transferrin receptor-like family. This
            protein mediates cellular uptake of transferrin-bound iron, and may
            be involved in iron metabolism, hepatocyte function and erythrocyte
            differentiation. Mutations in this gene have been associated with
            hereditary hemochromatosis type III. Alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform (1,
            also known as alpha).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC142630.1, AF067864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000223051.8/ ENSP00000223051.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC099394.6         40385-40386         c
            3-16                DR004213.1         145-158
            17-1515             AF067864.1         1-1499
            1516-1725           BI917390.1         546-755
            1726-2886           AF067864.1         1710-2870
FEATURES             Location/Qualifiers
     source          1..2886
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2886
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /note="transferrin receptor 2"
                     /db_xref="GeneID:7036"
                     /db_xref="HGNC:HGNC:11762"
                     /db_xref="MIM:604720"
     exon            1..76
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..2449
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transferrin receptor protein 2"
                     /codon_start=1
                     /product="transferrin receptor protein 2 isoform 1"
                     /protein_id="NP_003218.2"
                     /db_xref="CCDS:CCDS34707.1"
                     /db_xref="GeneID:7036"
                     /db_xref="HGNC:HGNC:11762"
                     /db_xref="MIM:604720"
                     /translation="MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEG
                     AETLAHFCPMELRGPEPLGSRPRQPNLIPWAAAGRRAAPYLVLTALLIFTGAFLLGYV
                     AFRGSCQACGDSVLVVSEDVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTIRQT
                     SLRERVAGSAGMAALTQDIRAALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAG
                     KVGEQLPLEDPDVYCPYSAIGNVTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVG
                     VISFAQKVTNAQDFGAQGVLIYPEPADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPG
                     FPSFNQTQFPPVASSGLPSIPAQPISADIASRLLRKLKGPVAPQEWQGSLLGSPYHLG
                     PGPRLRLVVNNHRTSTPINNIFGCIEGRSEPDHYVVIGAQRDAWGPGAAKSAVGTAIL
                     LELVRTFSSMVSNGFRPRRSLLFISWDGGDFGSVGSTEWLEGYLSVLHLKAVVYVSLD
                     NAVLGDDKFHAKTSPLLTSLIESVLKQVDSPNHSGQTLYEQVVFTNPSWDAEVIRPLP
                     MDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTKEDTYENLHKVLQGRLPAVAQAVAQ
                     LAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEFSGDLKARGLTLQWVYSARGDYI
                     RAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQYVSPADSPFRHIFMGRGDHT
                     LGALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLTWTLQGAANALSGDVWNID
                     NNF"
     exon            77..329
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            330..516
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            517..657
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            658..769
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            770..892
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1009
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1149
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1313
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1433
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1516
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1580
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..1648
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1725
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1810
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..2038
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2039..2179
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2180..2886
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2864..2869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /note="hexamer: AATAAA"
     polyA_site      2886
                     /gene="TFR2"
                     /gene_synonym="HFE3; TFRC2"
                     /note="major polyA site"
ORIGIN      
        1 atcgctgggg gacagcctgc aggcttcagg aggggacaca agcatggagc ggctttgggg
       61 tctattccag agagcgcaac aactgtcccc aagatcctct cagaccgtct accagcgtgt
      121 ggaaggcccc cggaaagggc acctggagga ggaagaggaa gacggggagg agggggcgga
      181 gacattggcc cacttctgcc ccatggagct gaggggccct gagcccctgg gctctagacc
      241 caggcagcca aacctcattc cctgggcggc agcaggacgg agggctgccc cctacctggt
      301 cctgacggcc ctgctgatct tcactggggc cttcctactg ggctacgtcg ccttccgagg
      361 gtcctgccag gcgtgcggag actctgtgtt ggtggtcagt gaggatgtca actatgagcc
      421 tgacctggat ttccaccagg gcagactcta ctggagcgac ctccaggcca tgttcctgca
      481 gttcctgggg gaggggcgcc tggaggacac catcaggcaa accagccttc gggaacgggt
      541 ggcaggctcg gccgggatgg ccgctctgac tcaggacatt cgcgcggcgc tctcccgcca
      601 gaagctggac cacgtgtgga ccgacacgca ctacgtgggg ctgcaattcc cggatccggc
      661 tcaccccaac accctgcact gggtcgatga ggccgggaag gtcggagagc agctgccgct
      721 ggaggaccct gacgtctact gcccctacag cgccatcggc aacgtcacgg gagagctggt
      781 gtacgcccac tacgggcggc ccgaagacct gcaggacctg cgggccaggg gcgtggatcc
      841 agtgggccgc ctgctgctgg tgcgcgtggg ggtgatcagc ttcgcccaga aggtgaccaa
      901 tgctcaggac ttcggggctc aaggagtgct catataccca gagccagcgg acttctccca
      961 ggacccaccc aagccaagcc tgtccagcca gcaggcagtg tatggacatg tgcacctggg
     1021 aactggagac ccctacacac ctggcttccc ttccttcaat caaacccagt tccctccagt
     1081 tgcatcatca ggccttccca gcatcccagc ccagcccatc agtgcagaca ttgcctcccg
     1141 cctgctgagg aagctcaaag gccctgtggc cccccaagaa tggcagggga gcctcctagg
     1201 ctccccttat cacctgggcc ccgggccacg actgcggcta gtggtcaaca atcacaggac
     1261 ctccaccccc atcaacaaca tcttcggctg catcgaaggc cgctcagagc cagatcacta
     1321 cgttgtcatc ggggcccaga gggatgcatg gggcccagga gcagctaaat ccgctgtggg
     1381 gacggctata ctcctggagc tggtgcggac cttttcctcc atggtgagca acggcttccg
     1441 gccccgcaga agtctcctct tcatcagctg ggacggtggt gactttggaa gcgtgggctc
     1501 cacggagtgg ctagagggct acctcagcgt gctgcacctc aaagccgtag tgtacgtgag
     1561 cctggacaac gcagtgctgg gggatgacaa gtttcatgcc aagaccagcc cccttctgac
     1621 aagtctcatt gagagtgtcc tgaagcaggt ggattctccc aaccacagtg ggcagactct
     1681 ctatgaacag gtggtgttca ccaatcccag ctgggatgct gaggtgatcc ggcccctacc
     1741 catggacagc agtgcctatt ccttcacggc ctttgtggga gtccctgccg tcgagttctc
     1801 ctttatggag gacgaccagg cctacccatt cctgcacaca aaggaggaca cttatgagaa
     1861 cctgcataag gtgctgcaag gccgcctgcc cgccgtggcc caggccgtgg cccagctcgc
     1921 agggcagctc ctcatccggc tcagccacga tcgcctgctg cccctcgact tcggccgcta
     1981 cggggacgtc gtcctcaggc acatcgggaa cctcaacgag ttctctgggg acctcaaggc
     2041 ccgcgggctg accctgcagt gggtgtactc ggcgcggggg gactacatcc gggcggcgga
     2101 aaagctgcgg caggagatct acagctcgga ggagagagac gagcgactga cacgcatgta
     2161 caacgtgcgc ataatgcggg tggagttcta cttcctttcc cagtacgtgt cgccagccga
     2221 ctccccgttc cgccacatct tcatgggccg tggagaccac acgctgggcg ccctgctgga
     2281 ccacctgcgg ctgctgcgct ccaacagctc cgggaccccc ggggccacct cctccactgg
     2341 cttccaggag agccgtttcc ggcgtcagct agccctgctc acctggacgc tgcaaggggc
     2401 agccaatgcg cttagcgggg atgtctggaa cattgataac aacttctgag gccctgggga
     2461 tcctcacatc cccgtccccc agtcaagagc tcctctgctc ctcgcttgaa tgattcaggg
     2521 tcagggaggt ggctcagagt ccacctctca ttgctgatca atttctcatt acccctacac
     2581 atctctccac ggagcccaga ccccagcaca gatatccaca caccccagcc ctgcagtgta
     2641 gctgacccta atgtgacggt catactgtcg gttaatcaga gagtagcatc ccttcaatca
     2701 cagccccttc ccctttctgg ggtcctccat acctagagac cactctggga ggtttgctag
     2761 gccctgggac ctggccagct ctgttagtgg gagagatcgc tggcaccata gccttatggc
     2821 caacaggtgg tctgtggtga aaggggcgtg gagtttcaat atcaataaac cacctgatat
     2881 caataa
//
